| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v1.46 | CSNK2B | Zornitza Stark Marked gene: CSNK2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v1.46 | CSNK2B | Zornitza Stark Gene: csnk2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v1.46 | CSNK2B | Zornitza Stark Phenotypes for gene: CSNK2B were changed from intellectual disability; ataxia; epilepsy to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v1.45 | CSNK2B | Zornitza Stark Classified gene: CSNK2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v1.45 | CSNK2B | Zornitza Stark Gene: csnk2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v1.44 | CSNK2B |
Boris Keren gene: CSNK2B was added gene: CSNK2B was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: CSNK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSNK2B were set to PMID: 34041744 Phenotypes for gene: CSNK2B were set to intellectual disability; ataxia; epilepsy Penetrance for gene: CSNK2B were set to Complete Review for gene: CSNK2B was set to GREEN Added comment: PMID: 34041744. 25 patients with mostly de novo LoF or missenses and NDD. 25% have ataxia Sources: Literature |
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